Neurology® Podcast Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults - Part 1
Jan 8, 2026
Dr. Ayush Gupta, a neurologist and neurogenetics clinician-scientist, dives into the fascinating world of monogenic disorders that imitate neuroinflammatory diseases. He highlights the diagnostic challenges and the importance of recognizing red flags in children versus adults. Topics include practical clues for identifying genetic causes in MS-like cases and the implications of misdiagnosing genetic conditions as autoimmune disorders. Ayush also discusses innovative treatments for conditions like Aicardi-Goutières and the significance of newborn screening for adrenoleukodystrophy.
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Anchoring Bias Masks Genetic Causes
- Anchoring bias causes clinicians to diagnose acquired demyelinating disease and miss genetic mimics.
- Genetic phenotypes increasingly present atypically across ages, so broaden differential when criteria don't fully fit.
Use Genetic Testing With Geneticist Input
- Order genetic testing for atypical or seronegative inflammatory cases but consult genetics for interpretation.
- Recognize panels yield positives, negatives, and VUS and know when to involve neurogenetics colleagues.
Single-Gene Disorders Can Look Inflammatory
- Single-gene disorders can produce relapsing inflammatory lesions that mimic autoimmune disease.
- These may show MRI enhancement, CSF pleocytosis, and steroid responsiveness, complicating diagnosis.